Product Details

Assay Reference Genome
Location

Chr.7:44152127 on build GRCh38
Cytoband
7p13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2645
Gene Symbol
GCK
Gene Name
glucokinase
Gene Aliases
FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2
Location
Chr.7:44143213-44189439 on build GRCh38
Assay Gene Location
Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GCK NM_000162.3 NP_000153.1
NM_033507.1 NP_277042.1
NM_033508.1 NP_277043.1
XM_017011966.1 XP_016867455.1
AK122876.1
BC001890.1 AAH01890.1
BT007062.1 AAP35711.1
DA640823.1
EU008605.1
M69051.1 AAB59563.1
M88011.1 AAA51824.1
M90299.1 AAA52562.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv830983 Chr7:44068842 - 44201624 on Build GRCh38 Loss MIR4649 POLD2 MYL7 MIR6838 YKT6 AEBP1 GCK POLM
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain MIR6837 MIR4649 POLD2 LINC00957 DBNL POLM POLR2J4 MYL7 SPDYE1 MIR6838 YKT6 AEBP1 GCK RASA4CP PGAM2
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain MIR6837 LOC107986791 URGCP MIR4649 POLD2 LINC00957 DBNL UBE2D4 MRPS24 POLM POLR2J4 MYL7 URGCP-MRPS24 SPDYE1 MIR6838 AEBP1 GCK RASA4CP PGAM2
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion CAMK2B YKT6 GCK

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